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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Koolen de Vries syndrome
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Accession:DOID:0050880 term browser browse the term
Definition:A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)
Synonyms:exact_synonym: 17q21.31 deletion syndrome;   17q21.31 microdeletion syndrome;   Chromosome 17q21.31 Deletion Syndrome;   Chromosome 17q21.31 Microdeletion Syndrome;   KANSL1-related intellectual disability syndrome;   KDVS;   Koolen syndrome;   monosomy 17q21.31
 primary_id: MESH:C566476
 alt_id: DOID:0070076;   OMIM:610443;   RDO:0014820
 xref: GARD:10727;   ORDO:96169
For additional species annotation, visit the Alliance of Genome Resources.


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Koolen de Vries syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf2 ADP-ribosylation factor 2 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome ClinVar PMID:25741868 NCBI chr10:92,018,562...92,040,335
Ensembl chr10:92,018,562...92,040,333
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Koolen-de Vries syndrome
ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome
ClinVar
OMIM
PMID:20301783 PMID:22544363 PMID:22544367 PMID:24056718 PMID:24088041 PMID:25326635 PMID:25741868 PMID:25741877 PMID:26306646 PMID:26424144 PMID:26467025 PMID:26633545 PMID:28211987 PMID:28492532 PMID:30293248 PMID:31278258 NCBI chr10:92,388,045...92,517,449
Ensembl chr10:92,389,530...92,476,109
JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: KANSL1-Related Intellectual Disability Syndrome ClinVar PMID:26467025 NCBI chr10:92,289,002...92,386,517
Ensembl chr10:92,288,910...92,386,517
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    syndrome 7073
      chromosomal deletion syndrome 881
        Koolen de Vries syndrome 3
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            disease of mental health 6024
              developmental disorder of mental health 3164
                specific developmental disorder 2345
                  intellectual disability 2193
                    non-syndromic intellectual disability 270
                      autosomal dominant non-syndromic intellectual disability 176
                        Koolen de Vries syndrome 3
paths to the root